An elderly diabetic patient with McArdle disease and recurrent rhabdomyolysis: a potential association with late hypoins
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CASE REPORT
Open Access
An elderly diabetic patient with McArdle disease and recurrent rhabdomyolysis: a potential association with late hypoinsulinemia? Pedro Renato Chocair1,2*, Sara Mohrbacher1,2, Precil Diego Miranda de Menezes Neves1,2,3, Leonardo Victor Barbosa Pereira1,2, Erico Souza Oliveira1,2, Luciana Loureiro Nardotto1,2, Alessandra Martins Bales1,2, Victor Augusto Hamamoto Sato1,2, Sabrina Neves Silva1, Bernadete Maria Coelho Ferreira1,2 and Américo Lourenço Cuvello-Neto1,2
Abstract Background: McArdle disease is a myopathy caused by mutations in PYGM gene that is characterized by reduced or absent activity of myophosphorylase. Reports of patients with concomitant McArdle disease and diabetes are scarce. We report a case of a patient with a late diagnosis of McArdle disease and we postulate that symptoms may be related to hypoinsulinemia. Case presentation: This report describes the evolution of an elderly diabetic patient with confirmed diagnosis of McArdle’s disease based on the absence of myophosphorylase activity in the analysis of muscle biopsy, and a homozygous mutation in the PYGM gene. The variant – Chr11: 64.525 (p. Asn168*fs) has not been previously described. The diagnosis of McArdle disease was confirmed after two episodes of rhabdomyolysis, at 77 and 81 years of age, as the symptoms were, until then, discrete. The “second-wind phenomenon” was not spontaneously reported, but it was confirmed when directly questioned. We postulate that the later episodes of rhabdomyolysis occurred because of a progressive decrease in insulin production with a consequent reduction in the uptake of blood glucose by muscle cells, thus compromising the cellular energy balance. To our knowledge, this is the first report of recurrent rhabdomyolysis in an elderly diabetic patient with genetically proven McArdle disease. Our initial attempt to reduce insulin resistance with metformin and pioglitazone was not effective, possibly because of inadequate insulinemia. However, an improvement was evident after the administration of low doses of intermediate-acting insulin. (Continued on next page)
* Correspondence: [email protected] 1 Internal Medicine Service, Oswaldo Cruz German Hospital, Rua Treze de Maio, 1815 – Bairro Bela Vista, São Paulo, SP 01323-020, Brazil 2 Nephrology and Dialysis Center, Oswaldo Cruz German Hospital, São Paulo, Brazil Full list of author information is available at the end of the article © The Author(s). 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creati
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